DISEASES

Disease-gene associations mined from literature

Human genes for congenital lactase deficiency

Congenital lactase deficiency [DOID:0111646]

A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3.

Synonyms:  congenital lactase deficiency,  congenital lactase deficiencies,  DOID:0111646,  CLD,  congenital alactasia ...